Challenges to diagnosing Duchenne

Because Duchenne is rare,1 healthcare professionals may encounter few cases, if any, during their careers. The rarity of the disease combined with the non-specific early symptoms means diagnosis can be a challenge and may result in diagnostic delay.2–4

  • Average delay in diagnosis (from first symptoms) ranges from 1.3 to ~2.5 years2,4,5
  • Average age at diagnosis is between 4.5 and 4.11 years4

Taking appropriate action when concerns first arise may prevent years of uncertainty and stress for families whilst waiting for a diagnosis.3,6–8

Diagnosing Duchenne: Case study of a 6-year-old boy

Delayed diagnosis of Duchenne muscular dystrophy (DMD) in a 6-year-old boy presenting with severe global developmental delay
The following case study is based on the case report published in Essex C & Roper H. BMJ. 2000;323:37–38 but the images are for illustrative purposes only.9

Challenges 3

20 monthsInitial presentation
C, presented with symptoms of developmental delay at 20 months

C, presented with symptoms of developmental delay at 20 months

C presented with symptoms of developmental delay at 20 months. C was unable to babble or speak, and communicated only through signing.
What would you do?
Speech delay and language impairment should trigger a creatine kinase (CK) test
4 yearsPresents learning difficulties
C was placed in a school for children with severe learning difficulties.

C was placed in a school for children with severe learning difficulties.

C was placed in a school for children with severe learning difficulties.

What would you do?
Learning difficulties should trigger a CK test

6 yearsPresents motor symptoms
At the age of 6 years, teachers reported concerns about bruising

At the age of 6 years, teachers reported concerns about bruising

At the age of 6 years, teachers reported concerns about bruising, which was attributed to frequent falls.

What would you do?
Frequent falls should trigger a CK test

First referral
C was referred to a paediatric neurologist for further assessment.

C was referred to a paediatric neurologist for further assessment.

C was referred to a paediatric neurologist for further assessment.
Physical examination revealed calf hypertrophy, a waddling gait and use of Gowers’ manoeuvre to get up from the floor. Laboratory tests were ordered.

What would you do?
Calf hypertrophy, abnormal gait or Gowers’ manoeuvre should trigger a CK test

Laboratory tests
C’s tests revealed his creatine kinase concentration

C’s tests revealed his creatine kinase concentration

C’s tests revealed his CK concentration levels were >9,000 U/L, elevated well above normal levels (normal level ≤250 U/L)

What would you do?
All patients with elevated CK levels should be referred to a neuromuscular specialist

Genetic tests
No deletion in the dystrophin gene was detected

No deletion in the dystrophin gene was detected

No deletion in the dystrophin gene was detected, but muscle biopsy showed dystrophic histochemistry and absence of dystrophin.

What would you do?
Genetic testing should be used to determine the specific mutation causing DMD. If initial genetic analysis is negative, the analysis of small and microdeletion/duplication gene mutations should be carried out.

Diagnosis
At the age of 6 years and 3 months, C was diagnosed with DMD.

At the age of 6 years and 3 months, C was diagnosed with DMD.

At the age of 6, C was diagnosed with DMD.

The delay between onset of symptoms and time of definitive diagnosis for C meant he wasn't receiving optimal management for his DMD during this time. By this time, he had lost a significant amount of muscle function.

Prompt intervention is critical to help delay disease progression and help preserve muscle function for as long as possible.

How can you help? If you see signs and symptoms of DMD, order a CK test.

Click here to check the red flag signs and symptoms. If you suspect DMD, perform a CK test.

1. Goemans N, et al. Eur Neurol Rev. 2014;9:78–82.
2. Ciafaloni E, et al. J Pediatr. 2009;155:380–385.
3. Lurio JG, et al. Am Fam Physician. 2015;91:38–44.
4. van Ruiten HJ, et al. Arch Dis Child. 2014;99:1074–1077.
5. Vry J, et al. J Neuromuscul Dis. 2016;3:517–527.
6. National Task Force for Early Identification of Childhood Neuromuscular Disorders. Child Muscle Weakness. 2019. Available at: childmuscleweakness.org [Accessed June 2021].
7. Cyrus A, et al. PLoS Curr. 2012:e4f99c5654147a.
8. McDonald CM, Fowler WM. Phys Med Rehabil Clin N Am. 2012;23:475–493.
9. Essex C, Roper H. BMJ. 2001;323:37–38.

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